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Autosomal recessive hereditary motor and sensory neuropathy with mental retardation, optic atrophy and pyramidal signs.

A syndrome is described, consisting of severe neurogenic distal wasting, generalised muscle weakness, absent ankle reflexes, pyramidal signs, mental retardation, optic atrophy and retinal colloid bodies. A sural nerve biopsy from one case showed loss of nerve fibres suggesting the diagnosis of hered...

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Hlavní autoři: MacDermot, K D, Walker, R W
Médium: Artigo
Jazyk:Inglês
Vydáno: 1987
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1032462/
https://ncbi.nlm.nih.gov/pubmed/3479531
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